autismalso called classic autism or autistic disorderdevelopmental disorder affecting physical, social, and language skills, with an onset of symptoms typically before age three. The term autism (from the Greek autos, meaning “self”) was coined in 1911 by Swiss psychiatrist Eugen Bleuler, who used it to describe withdrawal into one’s inner world, a phenomenon he observed in individuals with schizophrenia. The use of autism to describe the condition as it is known today originated in 1943, when Austrian-born American psychiatrist Leo Kanner distinguished the disorder from schizophrenia.

Classification and incidence

Classic autism, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS) are all included within an umbrella of disorders commonly referred to as autism spectrum disorders (ASD). In contrast to classic autism, individuals with Asperger syndrome usually do not possess major cognitive difficulties, and their IQ is in the normal or even high range. In addition, they do not exhibit a delay in language acquisition. Individuals with PDD-NOS exhibit some but not all of the same symptoms as classic autism.

ASDs affect 1 in every 110 children in the United States, and the disorders predominate in males, who are affected about three to four times more often than females. However, the incidence of autism varies significantly between and within countries, which is due in part to differences in the clinical definitions used for diagnosis. For example, in one region of the United Kingdom roughly one in every 185 individuals was found to be affected by an ASD. However, in the same region of the country classic autism was found to range in incidence between one in 250 and one in 400 individuals. In addition, there appears to have been a dramatic increase in the global incidence of autism between the mid-1900s and the early 2000s. However, it is not known whether there has been a true increase in the incidence of the disorder, since the increase could be due to the use of broader diagnostic criteria or other factors.

Causes and symptoms

The cause of autism remains unclear. Based on sibling studies, the disorder is thought to be highly heritable. Scientists have found that a region on chromosome 15 is deleted or duplicated in some children with autism; defects in and near this region have been implicated in other disorders associated with neurobiological development, including Angelman syndrome, Prader-Willi syndrome, and epilepsy.

Another proposed cause of autism emerged in 1998, when a paper published in the scientific journal The Lancet suggested an association between childhood vaccination and autism. This suggestion quickly developed into a controversial issue between parents and the scientific community. However, scientific evidence collected from extensive studies investigating the proposed association did not support a causal relationship. Further investigations revealed that the 1998 paper had violated research ethics and contained false claims, and thus in 2010 it was retracted by the journalin 2010.The .

Other research has suggested a link between autism risk and maternal and paternal age at the time of conception. A study of more than 4.9 million births that took place in the U.S. state of California between 1990 and 1999 revealed that about 5 percent of the nearly 12,160 children who later developed autism were born to older mothers. Mothers 40 years or older had the highest risk of giving birth to a child who would later develop autism. In contrast, older paternal age was a risk factor only when maternal age was 30 or younger. The underlying reasons for those associations, however, were unclear.

The symptoms of autism are variable, ranging from mild to moderate to severe in nature. There are three major categories of symptoms: (1) abnormalities in social interaction; (2) abnormalities in communication; and (3) abnormalities in behaviours, interests, and activities, which are usually restricted and repetitive. Social communication problems include a narrow range of facial expressions, poor eye contact during interactions, and difficulty establishing relationships with peers. This may result in a decreased quality of their relationships and can lead to social avoidance when severely affected. Communication problems include delayed or lack of spoken language, poor conversation skills, lack of appropriate developmental play, and diminished gestures. Repetitive behaviour problems include stereotyped motor mannerisms, such as hand flapping, restricted interests, inflexible adherence to routines, and a preoccupation for parts of objects. For example, a child with autism may play with the wheels of a toy car instead of using the car in the proper manner as a vehicle. Some children become obsessed with specific objects such as buttons and sometimes form deep attachments to these objects. In addition, disruption of routines and schedules or familiar surroundings may cause agitation and tantrums.

Neuropathology

One striking feature of many young children with autism is an enlargement of head size. In the 1980s information gathered from autopsies of individuals with autism indicated that the brains of people affected by the disorder weighed more than normal. In the early 2000s it was reported that the head circumference of autistic children increased between ages two and four and that this overgrowth was followed by a period of slowed growth, resulting in a normal head size in older children with autism. In some cases, overgrowth is present as early as one to two months following birth. Scientists have hypothesized that this unusual overgrowth pattern may be due to an enlargement of the brain white matter—the nerve fibres that connect one brain area to another.

Studies of the neuropathology of brain structures in autistic individuals have investigated the hippocampus, an area that is important for learning and memory; the amygdala, an area important for fear and emotion; the cerebellum, a motor and cognitive brain region; and the anterior cingulate cortex, a part of the cerebral cortex that is important for social and emotional behaviour. In children affected by autism these brain structures often exhibit increased cell density, with reduced cell size. In addition, the cerebellum typically has a reduction in Purkinje cells, which receive and integrate information from sensory and motor neurons.

A large amount of research has focused on the neurotransmitter systems in autism, and many studies have reported involvement of the serotonin (5-HT) and the inhibitory gamma-aminobutyric acid (GABA) systems. Early findings of elevated serotonin in the peripheral blood (hyperserotonemia) in many autistic individuals have led scientists to investigate whether similar abnormalities are found in the brain. Although the mechanisms by which the serotonin and GABA neurotransmitter systems contribute to symptoms of autism remain unclear, much evidence has emerged demonstrating that levels of GABA and GABA receptors are altered in many parts of the autistic brain. Key GABA-synthesizing enzymes known as GAD67 and GAD65 (glutamic acid decarboxylase 67 and 65, respectively) have been shown to be altered in specific cerebellar neurons in autism brains. Studies also have shown that between one-quarter and one-third of adolescents with autism have some type of seizure abnormality; this is suspected to be related to abnormalities in the GABA system.

Treatment

There is no cure for autism, and treatment is mainly directed toward controlling behavioral symptoms. Some children show significant improvements, and the best predictors for future function are typically IQ and language skills, especially in children who acquire language before age five. Early intervention, including promoting language, developing social skills, and regulating behaviour, allow for significant improvement in many children. Pharmacological treatments are directed toward secondary symptoms, such as behavioral problems, anxiety, depression, aggression, and seizures. Selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine (Prozac) and sertraline (Zoloft), have proved successful in helping some individuals overcome secondary symptoms. Clinical trials are being conducted on other drugs that may be useful in the treatment of autism.

Many individuals with autism also experience gastrointestinal problems. Thus, certain therapies are directed toward calming the gastrointestinal tract, which can lead to an improvement in attention and learning in some autistic individuals.